title: [Clinical and genetic analysis of idiopathic intellectual disability based on array comparative genomic hybridization].
abstract: In this study authors searched for chromosomal aberrations in 71 children with developmental delay or idiopathic mental retardation using Human Genome CGH Microarray Kits 4×44K and 8×60K (Agilent Technologies, USA). Microdeletions and microduplications, as well as CNV, which may be related to intellectual disability and associated with regions of known hereditary diseases or chromosomal syndromes were identified in 14 (20%) children (these patients are described in this article). During the analysis, candidate genes localized within the regions of aberrations and associated with development and functioning of nervous system were denoted.
authors.affiliation: Nauchno-issledovatel'skiĭ institut meditsinskoĭ genetiki Sibirskogo otdeleniia RAMN, Tomsk.
authors.forename: A A
authors.initials: AA
authors.lastname: Kashevarova
authors.forename: N A
authors.initials: NA
authors.lastname: Skryabin
authors.forename: A D
authors.initials: AD
authors.lastname: Cheremnykh
authors.forename: E N
authors.initials: EN
authors.lastname: Tolmacheva
authors.forename: E A
authors.initials: EA
authors.lastname: Sazhenova
authors.forename: O A
authors.initials: OA
authors.lastname: Salyukova
authors.forename: N N
authors.initials: NN
authors.lastname: Chechetkina
authors.forename: L I
authors.initials: LI
authors.lastname: Didenko
authors.forename: N N
authors.initials: NN
authors.lastname: Sukhanova
authors.forename: Yu S
authors.initials: YS
authors.lastname: Yakovleva
authors.forename: N B
authors.initials: NB
authors.lastname: Torkhova
authors.forename: L P
authors.initials: LP
authors.lastname: Nazarenko
authors.forename: P
authors.initials: P
authors.lastname: Magini
authors.forename: C
authors.initials: C
authors.lastname: Graziano
authors.forename: G
authors.initials: G
authors.lastname: Romeo
authors.forename: I N
authors.initials: IN
authors.lastname: Lebedev
mesh_terms: D000293:Adolescent; D002648:Child; D055028:Comparative Genomic Hybridization; D005260:Female; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male